ERCC2

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit

ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.

Aging Source: Ensembl
Apoptotic process Source: UniProtKB
Bone mineralization Source: Ensembl
Cell population proliferation Source: Ensembl
Central nervous system myelin formation Source: Ensembl
Chromosome segregation Source: UniProtKB
Embryonic cleavage Source: Ensembl
Embryonic organ development Source: Ensembl
Erythrocyte maturation Source: Ensembl
Extracellular matrix organization Source: Ensembl
Hair cell differentiation Source: UniProtKB
Hair follicle maturation Source: Ensembl
Hematopoietic stem cell differentiation Source: Ensembl
In utero embryonic development Source: Ensembl
Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: Ensembl
Multicellular organism growth Source: Ensembl
Nucleotide-excision repair Source: MGI
Nucleotide-excision repair, DNA duplex unwinding Source: GO_Central
Nucleotide-excision repair, DNA incision Source: UniProtKB
Positive regulation of DNA binding Source: Ensembl
Positive regulation of mitotic recombination Source: GO_Central
Post-embryonic development Source: Ensembl
Regulation of mitotic cell cycle phase transition Source: UniProtKB
Response to hypoxia Source: Ensembl
Response to oxidative stress Source: UniProtKB
Response to UV Source: GO_Central
Spinal cord development Source: Ensembl
Transcription by RNA polymerase II Source: UniProtKB
Transcription-coupled nucleotide-excision repair Source: UniProtKB
Transcription elongation from RNA polymerase I promoter Source: Ensembl
UV protection Source: MGI

Nucleus; Spindle

Xeroderma pigmentosum complementation group D (XP-D):
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
Trichothiodystrophy 1, photosensitive (TTD1):
A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity.
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2):
A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

ISGylated.